Rare Diseases And Orphan Drugs – Landscape & Forecast – Disease Landscape & Forecast

Approximately 80% of rare diseases have a genetic etiology. Gene therapies hold the potential to transform the treatment of rare diseases and may provide a functional cure for some. However, these innovative new treatments must come with equally innovative programs to optimize access in a global healthcare market that is still grappling with how to fairly assess their value and absorb their higher upfront costs. Nonetheless, the pipeline for gene therapies is burgeoning, as large pharmaceutical companies (e.g., Novartis, Johnson & Johnson) take an increasing stake in this arena. Here, we explore the clinical and commercial potential of gene therapies in key therapeutic areas (i.e., neurology, ophthalmology, and hematology).

QUESTIONS ANSWERED

  • What are the sizes of the eligible populations for gene therapies in key indications across the G7?
  • What are the key advantages and disadvantages of marketed gene therapies, and where do clinicians want to see improvements?
  • As potential single-administration cures, how will the treatment-eligible population change over time in indications served by a gene therapy?
  • Who are the key decision-makers for gene therapy purchases and administration?
  • What are the key drivers of and barriers to the adoption of gene therapies?
  • What type of clinical trial data will be necessary to support the adoption and reimbursement of gene therapies?
  • What is the clinical and commercial potential of emerging gene therapies in key therapy areas (e.g., ophthalmology, neurology)?

GEOGRAPHIES

United States, EU5, Japan

PRIMARY RESEARCH

Approximately 30 country-specific interviews with thought-leading gene therapy experts. Supported by survey data collected for this and other DRG research.

EPIDEMIOLOGY

Diagnosed prevalent and/or incident patient populations eligible for gene therapies in covered indications.

FORECAST

Ten-year, annualized, drug-level sales and patient share of key gene therapies through 2029.

EMERGING THERAPIES

Pipeline gene therapy coverage for select indications across therapy areas, including hematology, ophthalmology, and neurology.

PRODUCT DESCRIPTION

Disease Landscape & Forecast provides comprehensive market intelligence with world-class epidemiology, keen insight into current treatment paradigms, in-depth pipeline assessments, and drug forecasts supported by detailed primary and secondary research.

Table of contents

  • Rare Diseases And Orphan Drugs - Landscape & Forecast - Disease Landscape & Forecast
    • Key Updates
      • Q4 2021
        • October 2021
      • Q3 2021
        • September 2021
        • August 2021
        • July 2021
      • Q2 2021
        • June 2021
        • May 2021
      • Q1 2021
        • April 2021
        • February 2021
        • January 2021
      • 2020
        • June 2020
        • September 2020
        • October 2020
    • Key Findings
      • Gene Therapies for Rare Diseases Key Findings September 2021
        • June 2020
        • September 2020
        • October 2020
    • Market Outlook
      • Key Findings
        • Market Share of Gene Therapies Under Study: 2019
        • Market Share of Gene Therapies Under Study: 2029
        • Gene Therapies SWOT Analysis
      • COVID-19: Areas of Potential Forecast Impact
        • Market Drivers and Constraints
          • What Factors Are Driving the Market for Gene Therapies?
          • What Factors Are Constraining the Market for Gene Therapies?
        • Gene Therapy-Specific Trends
          • Yearly and Cumulative RPE65 Patients Treated with Luxturna in the Major Markets: 2019-2029
          • Yearly and Cumulative LHON Patients Treated with Lumevoq (GS010) in the Major Markets: 2019-2029
          • Yearly and Cumulative Choroideremia Patients Treated with BIIB-111 in the Major Markets: 2019-2029
          • Yearly and Cumulative SMA Patients Treated with Zolgensma in the Major Markets: 2019-2029
          • Yearly and Cumulative DMD Patients Treated with Gene Therapy in the Major Markets: 2019-2029
          • Yearly and Cumulative Beta Thalassemia Patients Treated with Zynteglo in the Major Markets: 2019-2029
        • Alternative Market Scenarios
          • Alternative Market Scenarios: Zynteglo
          • Alternative Scenarios for Beta Thalassemia Market Through 2029
          • Alternative Market Scenarios: SRP-9003
          • Alternative Scenarios for the Muscular Dystrophy Market Through 2029
      • Forecast
        • Market Forecast Assumptions Gene Therapies for Rare Diseases (2019-2029) September 2021
        • Market Forecast Dashboard Gene Therapies for Rare Diseases (2019-2029) September 2021
      • Gene Therapy Technologies
        • Monogenic Diseases
          • Gene Therapy Technologies
            • Overview
            • Gene Replacement
            • Viral Vectors for Gene Replacement
            • Antisense Oligonucleotides
            • Antisense Oligonucleotide Technologies
            • Gene Editing
            • Gene-Editing Approaches
            • Gene-Editing Platforms
            • Gene Therapy Pipeline Agents by Technology
            • Gene Therapy Pipeline Agents by Type of Vector Used
          • Major Milestones in Gene Therapy Development
            • Key Pathways and Drug Targets
              • Gene Therapy Pipeline by Therapy Area
              • Gene Therapy Pipeline by Phase of Clinical Development
          • Epidemiology
            • Key Findings
              • Epidemiology Populations
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of Achromatopsia
                • Diagnosed Prevalent Cases of Achromatopsia: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Mutation Status of Diagnosed Prevalent Cases of Achromatopsia
                • Subpopulations of Achromatopsia: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of Choroideremia
                • Diagnosed Prevalent Cases of Choroideremia: 2019-2029
                • Drug-Treatable Diagnosed Prevalent Cases of Choroideremia: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of Leber Hereditary Optic Neuropathy
                • Diagnosed Prevalent Cases of Leber Hereditary Optic Neuropathy: 2019-2029
                • Drug-Treatable Diagnosed Prevalent Cases of Leber Hereditary Optic Neuropathy: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Mutation Status of Diagnosed Prevalent Leber Hereditary Optic Neuropathy
                • Subpopulations of Leber Hereditary Optic Neuropathy: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of Nonsyndromic Retinitis Pigmentosa
                • Diagnosed Prevalent Cases of Nonsyndromic Retinitis Pigmentosa: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of RPE65-Associated Leber Congenital Amaurosis
                • Diagnosed Prevalent Cases of RPE65-Associated Leber Congenital Amaurosis: 2019-2029
                • Drug-Treatable Prevalent Cases of RPE65-Associated Retinitis Pigmentosa and Leber Congenital Amaurosis: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of RPE65-Associated Retinitis Pigmentosa
                • Diagnosed Prevalent Cases of RPE65-Associated Retinitis Pigmentosa: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of Stargardt Disease
                • Diagnosed Prevalent Cases of Stargardt Disease: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of X-Linked Retinitis Pigmentosa
                • Diagnosed Prevalent Cases of X-Linked Retinitis Pigmentosa: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of X-Linked Retinoschisis
                • Diagnosed Prevalent Cases of X-Linked Retinoschisis: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Mutation Status of Diagnosed Prevalent X-Linked Retinoschisis
                • Diagnosed Prevalent Cases of X-Linked Retinoschisis with RS1 Mutations: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Incidence Estimates of Duchenne Muscular Dystrophy
                • Diagnosed Incident Cases of Duchenne Muscular Dystrophy: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of Duchenne Muscular Dystrophy
                • Diagnosed Prevalent Cases of Duchenne Muscular Dystrophy: 2019-2029
                • Drug-Treatable Diagnosed Prevalent Cases of Duchenne Muscular Dystrophy: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Types of Diagnosed Prevalent Spinal Muscular Atrophy
                • Diagnosed Prevalence Cases of Spinal Muscular Atrophy Type I and Type II: 2019-2029
                • Gene Therapy-Eligible Diagnosed Prevalent Cases of Spinal Muscular Atrophy Type I and Type II: 2019-2029
                • Disease Definition
                • Methods
                • Sources Used for Diagnosed Prevalence Estimates of Beta Thalassemia
                • Diagnosed Prevalent Cases of Beta Thalassemia: 2019-2029
                • Drug-Treated Prevalent Cases of Beta Thalassemia: 2019-2029
            • Current Treatment
              • Diagnosis
                • Diagnosis of Genetic Diseases
              • Key Challenges for Developing Gene Therapies
                • Developmental Challenges
                • Adoption Challenges
              • Inherited Retinal Diseases
                • Select Inherited Retinal Diseases
                • Disease Presentation of Select Inherited Retinal Diseases
                • Diagnosis of Inherited Retinal Diseases
                • Current Therapies
                • Key Results of Select Clinical Trials Investigating Luxturna for the Treatment of Patients with Vision Loss Owing to RPE65 Mutation
                • Ongoing Clinical Development of Luxturna
                • Key Ongoing Clinical Trials of Luxturna
                • Expert Insight: Luxturna
              • Spinal Muscular Atrophy
                • Overview
                • Disease Presentation
                • Diagnosis of Spinal Muscular Atrophy
                • Advantages and Disadvantages of Spinal Muscular Atrophy Therapies
                • Key Results of Select Clinical Trials Investigating Zolgensma for the Treatment of Spinal Muscular Atrophy
                • Ongoing Clinical Development of Zolgensma
                • Key Clinical Trials of Zolgensma
                • Expert Insight: Zolgensma
              • Duchenne Muscular Dystrophy
                • Overview
                • Disease Presentation
                • Early Signs and Symptoms of Duchenne Muscular Dystrophy
                • Stages of Duchenne Muscular Dystrophy
                • Diagnosis of Duchenne Muscular Dystrophy
                • Mechanism of Action of Key Current Drugs or Drug Classes Used for Muscular Dystrophy
                • Advantages and Disadvantages of Duchenne Muscular Dystrophy Therapies
              • Beta Thalassemia
                • Overview
                • Disease Presentation
                • Diagnosis of Beta Thalassemia
                • Advantages and Disadvantages of Therapies for Beta Thalassemia
              • Guidelines for Gene Therapy Development
                • Guidelines for Developing Gene Therapies
                • Select Regional Guidelines for Developing Gene Therapies
                • Factors Influencing the Use of Gene Therapies
            • Unmet Need Overview
              • Current and Future Attainment of Unmet Needs in Gene Therapies
              • Top Unmet Needs in Gene Therapy: Current and Future Attainment
              • Expert Insight: Unmet Need in Gene Therapy
            • Emerging Therapies
              • Key Findings
                • Key Emerging Therapies
                  • Key Gene Therapies in Development
                  • Estimated Launch Dates of Key Emerging Gene Therapies
                  • Key Results From Select Clinical Trials Investigating Lumevoq for the Treatment of LHON
                  • Key Ongoing Clinical Trials of Lumevoq in the Treatment of LHON
                  • Analysis of the Clinical Development Program for Lumevoq
                  • Expert Insight: Lumevoq
                  • Expectations for Launch and Sales Opportunity of Lumevoq in LHON
                  • BIIB-111 Profile
                  • Key Ongoing Clinical Trials of BIIB-111 in the Treatment of Choroideremia
                  • Analysis of the Clinical Development Program for BIIB-111
                  • Expert Insight: BIIB-111
                  • Expectations for Launch and Sales Opportunity of BIIB-111 in Choroideremia
                  • BIIB-112 Profile
                  • Key Ongoing Clinical Trials of BIIB-112 in the Treatment of XLRP
                  • Analysis of the Clinical Development Program for BIIB-112
                  • Expert Insight BIIB-112
                  • Expectations for Launch and Sales Opportunity of BIIB-112 in XLRP
                  • AGTC-501 Profile
                  • Key Ongoing Clinical Trials of AGTC-501 in the Treatment of XLRP
                  • Analysis of the Clinical Development of AGTC-501 in XLRP
                  • Expectations for Launch and Sales Opportunity of AGTC-501 in XLRP
                  • A004 Profile
                  • Key Ongoing Clinical Trials of A004 in the Treatment of XLRP
                  • Analysis of the Clinical Development of A004 in XLRP
                  • Expectations for Launch and Sales Opportunity of A004 in XLRP
                  • Expert Insight: Dystrophin-Based Gene Therapies
                  • SRP-9001 Profile
                  • Key Ongoing Clinical Trials Investigating SRP-9001 for the Treatment of Duchenne Muscular Dystrophy
                  • Analysis of the Clinical Development Program for SRP-9001
                  • Expert Insight: SRP-9001
                  • Expectations for the Launch and Sales Opportunity of SRP-9001 in Duchenne Muscular Dystrophy
                  • PF-06939926 Profile
                  • Key Ongoing Clinical Trials Investigating PF-06939926 for the Treatment of Duchenne Muscular Dystrophy
                  • Analysis of the Clinical Development Program for PF-06939926
                  • Expectations for the Launch and Sales Opportunity of PF-06939926 in Duchenne Muscular Dystrophy
                  • Key Ongoing Clinical Trials of SGT-001 for the Treatment of Duchenne Muscular Dystrophy
                  • Analysis of the Clinical Development Program for SGT-001
                  • Expectations for the Launch and Sales Opportunity of SGT-001 in Duchenne Muscular Dystrophy
                  • SRP-9003 Profile
                  • Key Ongoing Clinical Trials Investigating SRP-9003 for the Treatment of Limb-Girdle Muscular Dystrophy
                  • Analysis of the Clinical Development Program for SRP-9003
                  • Expectations for the Launch and Sales Opportunity of SRP-9003 in Limb-Girdle Muscular Dystrophy
                  • Zynteglo Administration Process
                  • Zynteglo Profile
                  • Zynteglo Clinical Development
                  • Key Clinical Trials of Zynteglo in the Treatment of Beta Thalassemia
                  • Expert Insight: Zynteglo
                  • Expectations for Launch and Sales Opportunity of Zynteglo in Beta Thalassemia
                • Early-Phase Pipeline Analysis
                  • Select Gene Therapies in Early-Phase Development for Inherited Retinal Diseases
                  • Select Gene Therapies in Early-Phase Development for Beta Thalassemia and Duchenne Muscular Dystrophy
              • Access & Reimbursement Overview
                • Key Market Access Considerations for Gene Therapy
                • Region-Specific Reimbursement Practices
                  • General Reimbursement Environment: United States
                  • General Reimbursement Environment: EU5
                  • General Reimbursement Environment: Japan
              • Appendix
                • Key Abbreviations Related to Gene Therapies for Rare Diseases
                • Brands, Marketers, and Generic Availability of Gene Therapies by Market
                • Gene Therapies for Rare Diseases Bibliography